DPPA4

Chr 3

developmental pluripotency associated 4

Also known as: 2410091M23Rik

This gene encodes a nuclear factor that is involved in the maintenance of pluripotency in stem cells and essential for embryogenesis. The encoded protein has a scaffold-attachment factor A/B, acinus and PIAS (SAP) domain that binds DNA and is thought to modify chromatin. Mice with a homozygous knockout of the orthologous gene die during late embryonic development or within hours after birth. Knockout embryos are normal in size at embryonic day 18.5 but exhibit skeletal and lung tissue abnormalities. This gene, when mutated, is highly expressed in embryonal carcinomas, pluripotent germ cell tumors, and other cancers and is thought to play an important role in tumor progression. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

OMIMResearchGenerating clinical summary…
LOEUF 0.95
Clinical SummaryDPPA4
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
23 VUS of 26 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.95LOEUF
pLI 0.000
Z-score 1.72
OE 0.53 (0.310.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.34Z-score
OE missense 0.92 (0.811.06)
150 obs / 162.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.53 (0.310.95)
00.351.4
Missense OE?0.92 (0.811.06)
00.61.4
Synonymous OE?1.25
01.21.6
LoF obs/exp: 8 / 15.2Missense obs/exp: 150 / 162.3Syn Z: -1.54

ClinVar Variant Classifications

26 submitted variants in ClinVar

Classification Summary

VUS23
Likely Benign1
23
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
23
0
0
23
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total0240024

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

15 pathogenic / likely-pathogenic (of 16) ClinVar copy-number / structural variants overlap DPPA4 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

DPPA4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →